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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol | Gene ID ▲ | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0042798 | Low Vision | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0035304 | Retinal Degeneration | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0456909 | Blindness | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0015397 | Disorder of eye | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0007102 | Malignant tumor of colon | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
| C0699790 | Colon Carcinoma | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
| C0003873 | Rheumatoid Arthritis | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
| C0019158 | Hepatitis | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
| C0036421 | Systemic Scleroderma | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
| C0271097 | Usher Syndrome | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
| C0948008 | Ischemic stroke | ACOT4 | 122970 | acyl-CoA thioesterase 4 | Q8N9L9 |
| C0004936 | Mental disorders | DEGS2 | 123099 | delta 4-desaturase, sphingolipid 2 | Q6QHC5 |
| C0019693 | HIV Infections | DEGS2 | 123099 | delta 4-desaturase, sphingolipid 2 | Q6QHC5 |
| C0011849 | Diabetes Mellitus | DEGS2 | 123099 | delta 4-desaturase, sphingolipid 2 | Q6QHC5 |
| C0009402 | Colorectal Carcinoma | DEGS2 | 123099 | delta 4-desaturase, sphingolipid 2 | Q6QHC5 |
| C0011847 | Diabetes | DEGS2 | 123099 | delta 4-desaturase, sphingolipid 2 | Q6QHC5 |
| C0036341 | Schizophrenia | DEGS2 | 123099 | delta 4-desaturase, sphingolipid 2 | Q6QHC5 |
| C0030319 | Panic Disorder | PLA2G4E | 123745 | phospholipase A2 group IVE | Q3MJ16 |
| C0037369 | Smoking | PLA2G4E | 123745 | phospholipase A2 group IVE | Q3MJ16 |
| C0007789 | Cerebral Palsy | ACSM2A | 123876 | acyl-CoA synthetase medium chain family member 2A | Q08AH3 |
| C0036572 | Seizures | NRN1L | 123904 | neuritin 1 like | Q496H8 |
| C0004114 | Astrocytoma | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C0020598 | Hypocalcemia | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C0279626 | Squamous cell carcinoma of esophagus | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
